Canonical Allele Identifier: CA404317423

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893534A>C , CM000681.2:g.12893534A>C	GRCh38
NC_000019.9:g.13004348A>C , CM000681.1:g.13004348A>C	GRCh37
NC_000019.8:g.12865348A>C	NCBI36
NG_009292.1:g.7375A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.386A>C MANE Select	NP_000150.1:p.Glu129Ala
ENST00000222214.10:c.386A>C MANE Select	ENSP00000222214.4:p.Glu129Ala
NM_000159.3:c.386A>C	NP_000150.1:p.Glu129Ala
NM_013976.3:c.386A>C	NP_039663.1:p.Glu129Ala
NM_013976.4:c.386A>C	NP_039663.1:p.Glu129Ala
NM_013976.5:c.386A>C	NP_039663.1:p.Glu129Ala
NR_102316.1:n.549A>C
NR_102317.1:n.802A>C
ENST00000222214.9:c.386A>C	ENSP00000222214.4:p.Glu129Ala
ENST00000421816.6:n.364A>C
ENST00000585420.5:n.751A>C
ENST00000587832.5:n.443A>C
ENST00000588905.5:c.350A>C	ENSP00000465770.1:p.Glu117Ala
ENST00000589039.5:c.323A>C	ENSP00000465618.1:p.Glu108Ala
ENST00000590530.5:c.441A>C	ENSP00000468452.1:p.Arg147Ser
ENST00000590627.5:n.751A>C
ENST00000591043.1:n.422A>C
ENST00000591470.5:c.386A>C	ENSP00000466845.1:p.Glu129Ala
XM_006722721.2:c.386A>C	XP_006722784.1:p.Glu129Ala
XM_011527899.1:c.386A>C	XP_011526201.1:p.Glu129Ala
XM_011527899.2:c.386A>C	XP_011526201.1:p.Glu129Ala
XM_011527900.1:c.386A>C	XP_011526202.1:p.Glu129Ala
XM_011527900.2:c.386A>C	XP_011526202.1:p.Glu129Ala
XM_017026580.1:c.386A>C	XP_016882069.1:p.Glu129Ala